リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs)	MSH2	Pathogenic	2	47702201	47702205	TAGCTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1935del (p.Asp646fs)	MSH2	Pathogenic	2	47702338	47702338	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)	MSH2	Pathogenic	2	47702343	47702343	G	T	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.1959del (p.Asn653fs)	MSH2	Pathogenic	2	47702363	47702363	AT	A	criteria provided, single submitter	-
Duplication	NM_000251.3(MSH2):c.1985dup (p.Met663fs)	MSH2	Pathogenic	2	47702388	47702389	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.2003del (p.Thr668fs)	MSH2	Pathogenic	2	47702407	47702407	AC	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.2010dup (p.Asn671fs)	MSH2	Pathogenic	2	47703506	47703507	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.2060del (p.Leu687fs)	MSH2	Pathogenic	2	47703560	47703560	CT	C	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.2179del (p.Ala727fs)	MSH2	Pathogenic	2	47703678	47703678	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)	MSH2	Pathogenic	2	47705507	47705507	C	G	criteria provided, multiple submitters, no conflicts	-